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Background: Best vitelliform macular dystrophy (BVMD) is an autosomal dominant hereditary retinal disease caused by BEST1 gene mutations. Macular hole is a rare complication of BVMD. We are the first to report a BVMD case with bilateral macular holes and a new onset vitelliform lesion after a vitrectomy surgery. Materials and methods: A woman with a history of BVMD suffered from a 1-year vision loss in both eyes. Complete ophthalmologic examinations and BEST1 gene screening were performed on the patient. Results: Ophthalmoscopic examinations revealed bilateral macular holes with atrophic photoreceptors and retinal pigment epithelium (RPE). A disease-causing BEST1 mutation N296S (c.887A>G) was detected. A vitrectomy surgery with internal limiting membrane (ILM) peeling and gas tamponade was performed on the right eye. The macular hole closed and maintained stable for 1 year. A new extramacular vitelliform lesion was observed during the follow-up. Conclusions: Macular hole is an unusual but severe complication in the end stage of BVMD as the macular thinning is accompanied with vitreous traction. A vitrectomy surgery is effective to close the hole while further study is required to elucidate the pathophysiology of macular hole formation and the new vitelliform lesion in such a case. [ABSTRACT FROM PUBLISHER]

Purpose: To describe the clinical features and to analyze BEST1 mutations in patients with Best vitelliform macular dystrophy (BVMD). Methods: Thirteen individuals affected by BVMD from 6 unrelated Chinese families were studied. Complete ophthalmological examinations were performed, and the BEST1 gene was screened in all participants and 100 controls. Follow-ups were arranged within 12 months. Results: All 6 probands showed typical fundus appearances of BVMD. One of the 6 had a history of angle closure glaucoma, and another showed a unilateral focal choroidal excavation on optical coherence tomography. One patient experienced progression of the macular lesion during the follow-up. The asymptomatic mutation carriers had normal fundus but abnormal Arden ratios on electro-oculograms. Besides 4 previously reported mutations (p.Ser16Phe, p.Ser144Asn, p.Glu292Lys, p.Glu300Lys), 2 novel disease-causing mutations (p.Thr307Asp, p.Arg47His) were identified, of which p.Arg47His has been reported in adult-onset vitelliform macular dystrophy. Conclusions: Our findings have expanded the mutational and clinical spectrum of BVMD in a Chinese population. Clinical presentations of angle closure glaucoma and/or focal choroidal excavation may be related to BVMD, underlining the necessity of multimodal studies and risk assessment of angle closure glaucoma in BEST1 mutation carriers. BVMD and adult-onset vitelliform macular dystrophy may share a common etiology in some cases. [ABSTRACT FROM AUTHOR]